Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE Here, we report on a CHRNA1 mutation (α1Leu251Arg) in a patient with congenital myasthenic syndrome associated with transformation of the muscle acetylcholine receptor (AChR) into an inhibitory channel. 31570625 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE Nicotinic Acetylcholine Receptor Subunit Alpha-5 Promotes Radioresistance via Recruiting E2F Activity in Oral Squamous Cell Carcinoma. 31547418 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE The previous reports have shown that CHRNA polymorphisms were involved in schizophrenia. 31342675 2019
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. 30177536 2018
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation disease CLINVAR Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. 27748205 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 Biomarker disease BEFREE These findings highlight the role of auto-antigen gene (CHRNA1) in the autoimmune reactions against AChR and reveal synergistic contribution of genes of both auto-antigen and immune-regulating proteins (AIRE and CTLA-4) in the pathogenesis of MG. 27501803 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.010 Biomarker phenotype BEFREE Hence, our data suggest that NGF-induced "un-silencing" of CHRNA3<sup>+</sup> nociceptors significantly contributes to the development of mechanical hyperalgesia during inflammation. 29241539 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE To investigate the clinical importance of nAChRs in gliomas, we examined clinical outcomes and found that glioma patients with tumors overexpressing CHRNA1 or CHRNA9 (encoding for the AChR-α1 or AChR-α9) exhibit significant shorter overall survival. 26575950 2016
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.100 GeneticVariation disease CLINVAR Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 26036949 2015
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 AlteredExpression disease BEFREE Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes. 25888793 2015
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits. 25264167 2015
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 GeneticVariation disease BEFREE Specific adsorbents for myasthenia gravis autoantibodies using mutants of the muscle nicotinic acetylcholine receptor extracellular domains. 25595248 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Inherited disorders of the neuromuscular junction: an update. 25305004 2014
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.080 GeneticVariation disease BEFREE However, mutations in lipoprotein-like receptor 4, a long-time candidate gene for congenital myasthenia, have now been described and a new pathogenic splicing mutation in the nonfunctional exon of CHRNA1 has been reported. 25159927 2014
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation disease CLINVAR HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. 24121633 2013
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.070 Biomarker disease BEFREE Expression of a highly antigenic and native-like folded extracellular domain of the human α1 subunit of muscle nicotinic acetylcholine receptor, suitable for use in antigen specific therapies for Myasthenia Gravis. 24376846 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.050 Biomarker disease BEFREE Our results confirm that this CHRNA region is associated with both lung cancer development and smoking behavior. 23094028 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.050 GeneticVariation disease BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 GeneticVariation disease BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 Biomarker disease BEFREE Our results confirm that this CHRNA region is associated with both lung cancer development and smoking behavior. 23094028 2012
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.050 GeneticVariation disease BEFREE Seven SNPs in three nAChR genes were significantly associated with lung cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4). 23232035 2012
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.050 Biomarker disease BEFREE Our results confirm that this CHRNA region is associated with both lung cancer development and smoking behavior. 23094028 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.020 GeneticVariation disease BEFREE The rs6495309C > T polymorphism in the promoter of nicotinic acetylcholine receptor alpha subunit 3 (CHRNA3) gene was investigated in a case-control study that consisted of 406 patients with COPD and 394 healthy control subjects. 23255854 2012